Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999888887033312 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:125865766C>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH1L1
Ensembl transcript ID ENST00000452905
Genbank transcript ID NM_001270365
UniProt peptide O75891
alteration type single base exchange
alteration region CDS
DNA changes c.685G>T
cDNA.819G>T
g.51072G>T
AA changes V229F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS
229
frameshift no
known variant Reference ID: rs2886059
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC18521594217794
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6260.349
0.9530.355
(flanking)-0.2210.347
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51069wt: 0.2705 / mu: 0.3236 (marginal change - not scored)wt: CATCAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTC
mu: CATCAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTC
 caga|GTGT
Donor increased51076wt: 0.51 / mu: 0.67wt: TGTTTGGCAGCGGAT
mu: TTTTTGGCAGCGGAT
 TTTG|gcag
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      229AELVTAEAVRSVWQRILPKVLEVE
mutated  not conserved    229AELVTAEAVRSFWQRILPKVLEV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000012488  332AELVTAEAVRSAWQRI
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030088  330EELATAEAVRSSWMRILP
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000006080  330EEGRFAEQMRAVWQSILS
Drerio  all identical  ENSDARG00000077004  331DENRFAEQMRVVWKSI
Dmelanogaster  all conserved  FBgn0032945  341DELVKRSLLAGIWKAILKE--DV
Celegans  all conserved  F36H1.6  340EEKSTVAKLKKIWTGIL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
226231TURNlost
234237STRANDmight get lost (downstream of altered splice site)
240249STRANDmight get lost (downstream of altered splice site)
258261STRANDmight get lost (downstream of altered splice site)
270273STRANDmight get lost (downstream of altered splice site)
276280STRANDmight get lost (downstream of altered splice site)
286293STRANDmight get lost (downstream of altered splice site)
299301STRANDmight get lost (downstream of altered splice site)
302304HELIXmight get lost (downstream of altered splice site)
320334HELIXmight get lost (downstream of altered splice site)
323392DOMAINAcyl carrier.might get lost (downstream of altered splice site)
347351HELIXmight get lost (downstream of altered splice site)
354354MOD_RESO-(pantetheine 4'-phosphoryl)serine (By similarity).might get lost (downstream of altered splice site)
356367HELIXmight get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
384397HELIXmight get lost (downstream of altered splice site)
417902REGIONAldehyde dehydrogenase.might get lost (downstream of altered splice site)
470470CONFLICTD -> G (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
571573NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
597600NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
613613MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
630635NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
650651NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
673673ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
677677CONFLICTK -> E (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
680680CONFLICTL -> F (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
702702CONFLICTN -> S (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
707707ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
757757BINDINGNADP (By similarity).might get lost (downstream of altered splice site)
804806NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2406 / 2406
position (AA) of stopcodon in wt / mu AA sequence 802 / 802
position of stopcodon in wt / mu cDNA 2540 / 2540
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 135 / 135
chromosome 3
strand -1
last intron/exon boundary 2485
theoretical NMD boundary in CDS 2300
length of CDS 2406
coding sequence (CDS) position 685
cDNA position
(for ins/del: last normal base / first normal base)
819
gDNA position
(for ins/del: last normal base / first normal base)
51072
chromosomal position
(for ins/del: last normal base / first normal base)
125865766
original gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTCCCC
altered gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTCCCC
original cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTGTTTGGCAGCGGATCCTCCCC
altered cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTTTTTGGCAGCGGATCCTCCCC
wildtype AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIH
NWIRGNDKVP GAWTEACEQK LTFFNSTLNT SGLVPEGDAL PIPGAHRPGV VTKAGLILFG
NDDKMLLVKN IQLEDGKMIL ASNFFKGAAS SVLELTEAEL VTAEAVRSVW QRILPKVLEV
EDSTDFFKSG AASVDVVRLV EEVKELCDGL ELENEDVYMA STFGDFIQLL VRKLRGDDEE
GECSIDYVEM AVNKRTVRMP HQLFIGGEFV DAEGAKTSET INPTDGSVIC QVSLAQVTDV
DKAVAAAKDA FENGRWGKIS ARDRGRLMYR LADLMEQHQE ELATIEALDA GAVYTLALKT
HVGMSIQTFR YFAGWCDKIQ GSTIPINQAR PNRNLTLTRK EPVGVCGIII PWNYPLMMLS
WKTAACLAAG NTVVIKPAQV TPLTALKFAE LTLKAGIPKG VVNVLPGSGS LVGQRLSDHP
DVRKIGFTGS TEVGKHIMKS CAISNVKKVS LELGGKSPLI IFADCDLNKA VQMGMSSVFF
NKGENCIAAG RLFVEDSIHD EFVRRVVEEV RKMKVGNPLD RDTDHGPQNH HAHLVKLMEY
CQHGVKEGAT LVCGGNQVPR PGFFFEPTVF TDVEDHMFIA KEESFGPVMI ISRFADGDLD
AVLSRANATE FGLASGVFTR DINKALYVSD KLQAGTVFVN TYNKTDVAAP FGGFKQSGFG
KDLGEAALNE YLRVKTVTFE Y*
mutated AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIH
NWIRGNDKVP GAWTEACEQK LTFFNSTLNT SGLVPEGDAL PIPGAHRPGV VTKAGLILFG
NDDKMLLVKN IQLEDGKMIL ASNFFKGAAS SVLELTEAEL VTAEAVRSFW QRILPKVLEV
EDSTDFFKSG AASVDVVRLV EEVKELCDGL ELENEDVYMA STFGDFIQLL VRKLRGDDEE
GECSIDYVEM AVNKRTVRMP HQLFIGGEFV DAEGAKTSET INPTDGSVIC QVSLAQVTDV
DKAVAAAKDA FENGRWGKIS ARDRGRLMYR LADLMEQHQE ELATIEALDA GAVYTLALKT
HVGMSIQTFR YFAGWCDKIQ GSTIPINQAR PNRNLTLTRK EPVGVCGIII PWNYPLMMLS
WKTAACLAAG NTVVIKPAQV TPLTALKFAE LTLKAGIPKG VVNVLPGSGS LVGQRLSDHP
DVRKIGFTGS TEVGKHIMKS CAISNVKKVS LELGGKSPLI IFADCDLNKA VQMGMSSVFF
NKGENCIAAG RLFVEDSIHD EFVRRVVEEV RKMKVGNPLD RDTDHGPQNH HAHLVKLMEY
CQHGVKEGAT LVCGGNQVPR PGFFFEPTVF TDVEDHMFIA KEESFGPVMI ISRFADGDLD
AVLSRANATE FGLASGVFTR DINKALYVSD KLQAGTVFVN TYNKTDVAAP FGGFKQSGFG
KDLGEAALNE YLRVKTVTFE Y*
speed 1.19 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project